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DR info

Clinical trials : 5 / Drugs : 6 - (DrugBank : 3) / Drug target genes : 17 - Drug target pathways : 26

Other names

Primary dystonia;X-linked dystonia parkinsonism;Lubag;Segawa syndrome;SS;Dopa-responsive dystonia;DRD;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;CSE;Episodic kinesigenic dyskinesia 1;EKD1;Myoclonus-dystonia syndrome;MDS;Rapid-onset dystonia-parkinsonism;RDP;Alternating hemiplegia of childhood;AHC;Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss;CAPOS;Paroxysmal execise-induced dyskinesia;PED;Episodic kinesigenic dyskinesia 2;EKD2;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2;MEPAN syndrome;

Disease group

Neuromuscular diseases

Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese)

148 patients

Age distribution

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Clinical research form (in Japanese)
MHLW Intractable Diseases, FY2026 (in Japanese)

Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)

Specific pediatric chronic diseases, Japan (in Japanese)

11-31-86. alternating hemiplegia of childhood; AHC

11-32-87. dystonia musculorum deformans

11-32-88. Segeawa syndrome; Dopamine-responsive dystonia; DRD; Hereditary progressive dystonia with diurnal variation; HPD

Sub-diseases
(Clinical research forms may not be available for all sub-diseases.)